A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307927



Internal ID15154875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52740606..52740607hg38UCSC Ensembl
Innerchr7:52740573..52740640hg38UCSC Ensembl
Outerchr7:52740572..52740641hg38UCSC Ensembl
chr7:52808300..52808301hg19UCSC Ensembl
Innerchr7:52808267..52808334hg19UCSC Ensembl
Outerchr7:52808266..52808335hg19UCSC Ensembl
chr7:52775794..52775795hg18UCSC Ensembl
Innerchr7:52775828..52775761hg18UCSC Ensembl
Outerchr7:52775760..52775829hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838377
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307927
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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